Toriello H V, Horton W A, Oostendorp A, Waterman D F, Higgins J V
Am J Med Genet. 1986 Sep;25(1):1-8. doi: 10.1002/ajmg.1320250102.
We describe two sibs with prenatal-onset growth deficiency, microcephaly, cataracts, mental retardation, enamel hypoplasia, immune deficiency, and generalized delay of ossification. The combination appears to constitute a previously undescribed autosomal recessive syndrome.
我们描述了两名患有产前生长发育迟缓、小头畸形、白内障、智力迟钝、牙釉质发育不全、免疫缺陷和全身骨化延迟的同胞。这种症状组合似乎构成了一种此前未被描述的常染色体隐性综合征。